Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores.
LeMaster C, Schwendinger-Schreck C, Ge B, Cheung W, Johnston JJ, Pastinen T, Smail C. Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores. medRxiv. 2024 Mar 18.